Navigation Links
New gene discovered for new form of intellectual disability
Date:4/24/2008

The Centre for Addiction and Mental Health (CAMH) has discovered a new form of intellectual disability involving mental retardation (MR) along with the eye defect retinitis pigmentosa (RP). CAMH also discovered the previously unidentified gene that causes this disorder, CC2D2A. This scientific advance will help understand the developmental and biological processes involved in brain development, and may help identify ways to diagnose and treat intellectual disabilities.

Under the direction of Dr. John Vincent, scientist at CAMH, the team identified a mutation in CC2D2A that causes the production of a shortened protein missing the C2, or calcium-binding, domain. This protein mutation results in faulty cell function, which leads to MR with RP.

Most genes for intellectual disabilities that have been found so far are on the X chromosome. As Dr. Vincent explains, this mutation was found on the autosome (The 22 pairs of non-sex chromosomes, that make up the 46 chromosomes in the human body). Autosomal-recessive inheritance (where both mother and father carry a gene mutation on one chromosome, but both maternal and paternal copies must be passed on to the offspring to cause the disorder) is believed to be relatively common in intellectual disability, though only four genes causing this type of disability have been identified to date.

Whats really exciting is that the new gene, CC2D2A, encodes a protein with domains similar to those found in one of the previous four autosomal recessive MR genes. This link could suggest a common function that is essential for normal brain development, says Dr. Vincent.

Dr. Vincent and his team will continue exploring these initial findings, to help identify more people with mutations affecting the CC2D2A gene. This additional research will provide scientists more clues to understand, diagnose and treat intellectual disabilities.

Intellectual disabilities, also known as developmental delay or mental retardation, are a group of disorders defined by deficits in cognitive and adaptive development. Impacting between one and three percent of the population, a higher proportion of men are affected by this type of disability.


'/>"/>

Contact: Michael Torres
michael_torres@camh.net
416-595-6015
Centre for Addiction and Mental Health
Source:Eurekalert

Related biology news :

1. New source for biofuels discovered
2. Worlds oldest living tree discovered in Sweden
3. Harlequin frog rediscovered in remote region of Colombia
4. Epigenetic changes discovered in major psychosis
5. A common genetic mechanism discovered in nitrogen-fixing plants
6. ASU researcher may have discovered key to life before its origin on Earth
7. Krill discovered living in the Antarctic abyss
8. Generalist bacteria discovered in coastal waters may be more flexible than known before
9. Proteins new role discovered in autoimmune disease
10. Massive dinosaur discovered in Antarctica sheds light on life, distribution of sauropodomorphs
11. Safe and effective therapy discovered for patients with protein-losing enteropathy
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:4/17/2017)... MELBOURNE, Florida , April 17, 2017 ... security technology company, announces the filing of its 2016 Annual Report ... Securities and Exchange Commission. ... Report on Form 10-K is available in the Investor Relations section ... well as on the SEC,s website at http://www.sec.gov . ...
(Date:4/13/2017)... -- According to a new market research report "Consumer IAM ... and Authorization), Service, Authentication Type, Deployment Mode, Vertical, and Region - Global ... grow from USD 14.30 Billion in 2017 to USD 31.75 Billion by ... ... MarketsandMarkets Logo ...
(Date:4/11/2017)... Research and Markets has announced the addition of the ... ... to grow at a CAGR of 30.37% during the period 2017-2021. ... been prepared based on an in-depth market analysis with inputs from ... prospects over the coming years. The report also includes a discussion ...
Breaking Biology News(10 mins):
(Date:8/22/2017)... ... August 22, 2017 , ... ... development and distribution of highly differentiated spinal implant technologies, announced today the appointment ... 15 years of spinal device industry experience to directing Cutting Edge Spine’s national ...
(Date:8/21/2017)... ... August 20, 2017 , ... Brian Pogue of Dartmouth ... January 2018. The journal is published by SPIE, the international society for optics ... of modern optical technology for improved health care and biomedical research. The journal ...
(Date:8/21/2017)... Baltimore, Maryland (PRWEB) , ... August 21, 2017 ... ... has partnered with a leading Chinese bio security firm, to bring its proprietary ... As part of the relationship, the Chinese firm has purchased an undisclosed ...
(Date:8/21/2017)... ... , ... Today Aether announced that Aether and University of South Australia (“UniSA”) ... Gates Foundation grant, to pursue a 3D bioprinting research breakthrough in ... Gates Foundation, is said to be the largest transparently operated private foundation in the ...
Breaking Biology Technology: